Varaico: Literature-Extracted Genetic Variants

KCNQ1

2,217 papers

RefSeq Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, ...

Pfam Domains

Ion_transaa 122–359UCSCIon transport protein

KCNQ_channelaa 483–620UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 1

HGNC Previous Symbols

LQT; KCNA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_000218.3

p.F127L

c.381C>G

Surrounding Variants

16 papers

NM_000218.3

p.F127L

c.381C>A

7 papers

NM_000218.3

p.A128T

c.382G>A

1 paper

NM_000218.3

p.A128P

c.382G>C

1 paper

NM_000218.3

p.A128S

c.382G>T

1 paper

NM_000218.3

p.A128_V129del1

c.383_385delCCG

1 paper

NM_000218.3

p.A128D

c.383C>A

2 papers

NM_000218.3

p.A128G

c.383C>G

2 papers

NM_000218.3

p.A128V

c.383C>T

15 papers

NM_000218.3

p.F127L

c.379T>C

3 papers

NM_000218.3

p.F127V

c.379T>G

1 paper

NM_000218.3

p.H126H

c.378C>T

1 paper

NM_000218.3

p.H126P

c.377A>C